SMA is a rare genetic disorder that affects movement and muscle strength

Spinal muscular atrophy (SMA) is a rare genetic disorder affecting movement and muscle strength. In Slovenia, approximately 130 individuals live with SMA today, about 90 adults and 40 children and adolescents. Once considered a condition that often ended lives in early childhood, SMA has transformed significantly over recent years due to advances in diagnosis and treatment. August marks International SMA Awareness Month, bringing renewed focus on the lives of adults living with the disease, including their independence, education, employment, and daily achievements. Systemic progress and community engagement have opened new possibilities for these individuals to lead active, dignified lives within society. The condition, which affects motor neurons, does not impact intellectual or creative potential. Modern medicine now enables many patients to reach adulthood and even old age. Treatment for SMA is complex and must begin as early as possible to halt the degeneration of motor neurons, according to Prof. Dr. Lea Leonardis, head of the Department of Clinical Neurophysiology at the University Clinic Ljubljana. She explains that SMA can manifest even in adulthood, with symptoms such as difficulty standing from a chair, climbing stairs, or lifting objects overhead. Later, walking becomes more challenging, and there is increased weakness in the upper body. For individuals diagnosed with SMA in childhood, transitioning from pediatric care to adult management is a critical milestone. As teenagers approach majority, they gradually take responsibility for their healthcare decisions while being guided by specialists who encourage them to express their personal goals. “We aim for them to define objectives that are meaningful in their everyday life, such as enrollment in university, employment, or driving a car,” says Dr. Leonardis. This transition emphasizes the importance of personalized care aligned with each patient’s aspirations. Jakob Remar, a student, shares his experience: “Transitioning into adulthood meant taking responsibility for my decisions and daily tasks. I strive to be more than just a passive recipient of information, I communicate with doctors about what I observe, what matters to me, and my goals regarding studies, work, and independent living. The dialogue is crucial: doctors provide professional knowledge, while I best understand my daily life and priorities.” Similarly, teenager Matic Brunec notes that stable health brings peace of mind: “Knowing my health is well-managed gives me confidence in school, socializing, and other activities. It's important that I don’t miss out on things my peers enjoy. Modern therapies give me a sense of security about the future, allowing me to look ahead more positively and consider opportunities once deemed difficult.” Success is measured by quality of life rather than clinical metrics alone. For those with SMA, muscle strength and mobility gradually decline, so treatment is tailored to the individual. The primary goal for adults is stabilization, slowing disease progression, and preserving essential functions for independence. “Clinical results are important, but they don't tell the whole story of treatment effectiveness. For the patient, success lies in maintaining daily activities and independence. Personal achievements, such as completing education, securing employment, engaging in leisure activities, and building a self-sufficient life and family, reflect real success,” Dr. Leonardis emphasizes.